New insights into the pathogenesis of autosomal dominant cutis laxa with report of five ELN mutations

Autosomal dominant cutis laxa (ADCL) is characterized by a typical facial appearance and generalized loose skin folds, occasionally associated with aortic root dilatation and emphysema. We sequenced exons 28–34 of the ELN gene in 5 probands with ADCL features and found 5 de novo heterozygous mutatio...

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Autori principali: Callewaert, Bert, Renard, Marjolijn, Hucthagowder, Vishwanathan, Albrecht, Beate, Hausser, Ingrid, Blair, Edward, Dias, Cristina, Albino, Alice, Wachi, Hiroshi, Sato, Fumiaki, Mecham, Robert P., Loeys, Bart, Coucke, Paul J., De Paepe, Anne, Urban, Zsolt
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2011
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3383654/
https://ncbi.nlm.nih.gov/pubmed/21309044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21462
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